Pathogenic Repeat Expansions In Ataxia: Advancing Gene Discovery And Genetic Diagnosis
Funder
National Health and Medical Research Council
Funding Amount
$645,205.00
Summary
Hereditary ataxia is a severe neurological disorder that results in impaired coordination and balance and affects 1 in 20,000 Australians. Ataxias are often caused by complex genetic mutations called repeat expansions (RE), which are difficult to detect. Therefore, genetic diagnosis of ataxia remains limited and poorly accessible, leading to a gap in clinical care. In this study, we will utilise modern advances in genetic sequencing technology to diagnose and discover ataxias caused by REs.
High-throughput single-molecule directed evolution. DNA polymerases are essential enzymes in many biotechnological tools, including DNA sequencing and PCR tests. However, existing DNA polymerases have limitations, resulting in inaccuracies and inefficiencies. Existing methods to improve polymerases lack sensitivity to screen for subtle, yet pivotal traits. This project aims to overcome this limitation by developing a new single-molecule directed-evolution system to evolve better polymerases. Wit ....High-throughput single-molecule directed evolution. DNA polymerases are essential enzymes in many biotechnological tools, including DNA sequencing and PCR tests. However, existing DNA polymerases have limitations, resulting in inaccuracies and inefficiencies. Existing methods to improve polymerases lack sensitivity to screen for subtle, yet pivotal traits. This project aims to overcome this limitation by developing a new single-molecule directed-evolution system to evolve better polymerases. With this new technology we aim to identify DNA polymerases with improved performance that benefit biotechnological applications. Additionally, these single-molecule directed-evolution methods will benefit the wider scientific community and lay the foundation for further advances in directed evolution.Read moreRead less
Comparative Effectiveness Of Breast Tomosynthesis And Mammography In Real-world Population Screening: Evidence To Underpin And Improve Breast Cancer Screening
Funder
National Health and Medical Research Council
Funding Amount
$1,851,430.00
Summary
This research addresses key evidence gaps in breast cancer screening by investigating tomosynthesis (3D mammography) versus standard 2D mammography screening to establish the effectiveness of tomosynthesis in Australia and internationally, including impact on cancers not detected at screening that progress clinically. Large-scale studies will be done in real world screening services including a prospective comparative study planned collaboratively with BreastScreen to guide screening policy.
Improving diagnostic accuracy and treatment options for equine PPID. Equine Pituitary Pars Intermedia Dysfunction (PPID) is a common, chronic and potentially life-threatening disease of older horses and ponies. Although a treatment is available, the disease is poorly understood and there are some concerns that the current diagnostic technology is not delivering accurate results. Thus, this project aims to develop a more accurate diagnostic test for PPID, while exploring the relationship between ....Improving diagnostic accuracy and treatment options for equine PPID. Equine Pituitary Pars Intermedia Dysfunction (PPID) is a common, chronic and potentially life-threatening disease of older horses and ponies. Although a treatment is available, the disease is poorly understood and there are some concerns that the current diagnostic technology is not delivering accurate results. Thus, this project aims to develop a more accurate diagnostic test for PPID, while exploring the relationship between PPID and metabolic syndrome, to generate new insights into the cause and consequences of both diseases. As an added benefit, the project will assist horseracing laboratories to improve their detection methods for peptide doping in younger competition horses.
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Artificial intelligence algorithms to predict risk of injury in racehorses. This project will address the urgent need for predicting and preventing catastrophic and career limiting limb injuries and cardiac arrhythmias in racehorses due to over (or under) training. Using data from GPS and movement sensors integrated into saddlecloths, artificial intelligence algorithms will convert cumulative data on speed, gait, and stride characteristics during training, along with injury data, into a risk mat ....Artificial intelligence algorithms to predict risk of injury in racehorses. This project will address the urgent need for predicting and preventing catastrophic and career limiting limb injuries and cardiac arrhythmias in racehorses due to over (or under) training. Using data from GPS and movement sensors integrated into saddlecloths, artificial intelligence algorithms will convert cumulative data on speed, gait, and stride characteristics during training, along with injury data, into a risk matrix. Recorded heart rate and ECG data will also be analysed using artificial intelligence to detect early evidence of the development of cardiac arrhythmias. The system will improve racehorse welfare, providing a simple interface to warn trainers when risk of injury becomes high, in order to prevent catastrophic breakdown.Read moreRead less
Reading the sequence of a single molecule of DNA . This project seeks to develop technology capable of accurately reading the sequence of a single DNA molecule for the first time. This is possible by combining state-of-the-art methods in DNA self-assembly, single-molecule fluorescence microscopy and bioelectronics, to overcome fundamental limits in current technologies.
The outcome of accurate DNA sequencing at single molecule resolution, promises ground-breaking biological insight from a more ....Reading the sequence of a single molecule of DNA . This project seeks to develop technology capable of accurately reading the sequence of a single DNA molecule for the first time. This is possible by combining state-of-the-art methods in DNA self-assembly, single-molecule fluorescence microscopy and bioelectronics, to overcome fundamental limits in current technologies.
The outcome of accurate DNA sequencing at single molecule resolution, promises ground-breaking biological insight from a more fine-grained view of the genetic world, game-changing technologies such as point-of-care genomics and in turn a substantial impact on the rapidly growing multi-billion-dollar DNA sequencing market. Read moreRead less
Ultrafast tracking of physiological processes in the human eye. Recent developments in high-resolution imaging allow individual cells in the living eye to be studied at very high speeds. This project aims to explore a new class of scientific observations of rapid phenomena including: the capture and conversion of light energy to electrical energy, the spread of pressure waves through delicate networks of blood vessels, and fast eye movements used to navigate the visual scene. This project expect ....Ultrafast tracking of physiological processes in the human eye. Recent developments in high-resolution imaging allow individual cells in the living eye to be studied at very high speeds. This project aims to explore a new class of scientific observations of rapid phenomena including: the capture and conversion of light energy to electrical energy, the spread of pressure waves through delicate networks of blood vessels, and fast eye movements used to navigate the visual scene. This project expects to generate new knowledge about these processes using state of the art technology, to reveal more about how the eye and visual system work. Our novel measures of physiological function will offer significant future benefit in the early diagnosis and treatment of disorders occurring at the cellular level.Read moreRead less
Australian Laureate Fellowships - Grant ID: FL230100023
Funder
Australian Research Council
Funding Amount
$3,362,355.00
Summary
Highly efficient microscale liquid handling and bio interfacing. The aim is to establish the exciting new field of micro elastofluidics, enabling the development of a highly competitive, sovereign capability in Australia, utilising flexibility and stretchability for efficient and precise handling of tiny volumes of liquid. The program will fill a critical gap in fundamental knowledge in fluid-structure interactions, leading to the development of wearable and implantable devices. The expected out ....Highly efficient microscale liquid handling and bio interfacing. The aim is to establish the exciting new field of micro elastofluidics, enabling the development of a highly competitive, sovereign capability in Australia, utilising flexibility and stretchability for efficient and precise handling of tiny volumes of liquid. The program will fill a critical gap in fundamental knowledge in fluid-structure interactions, leading to the development of wearable and implantable devices. The expected outcomes include innovative platform technologies for sample storage, handling and unique device-human interfaces with broad applications in health and defence. Expected benefits include enhanced capabilities in medical diagnostics, defence force protection and Australia’s sovereign high-tech manufacturing.Read moreRead less
Ion-atom collision data for fusion energy, hadron therapy and astrophysics. This project aims to combine experimental and theoretical efforts to generate accurate data required for the development and maintenance of fusion reactors, treatment planning in hadron therapy of cancerous tumours, and modelling astrophysical phenomena. Hadron therapy has been used successfully worldwide for over a decade with Australia’s first such facility, the Bragg Centre for Proton Therapy, currently under construc ....Ion-atom collision data for fusion energy, hadron therapy and astrophysics. This project aims to combine experimental and theoretical efforts to generate accurate data required for the development and maintenance of fusion reactors, treatment planning in hadron therapy of cancerous tumours, and modelling astrophysical phenomena. Hadron therapy has been used successfully worldwide for over a decade with Australia’s first such facility, the Bragg Centre for Proton Therapy, currently under construction. Fusion reactors are a source of abundant green energy. Immense progress is being made in their construction and underlying technology. Currently, there is an urgent demand for accurate data on ion-beam collisions with atoms and molecules for the aforementioned applications. This project intends to meet this demand.Read moreRead less
Electron-molecule collisions in fusion and astrophysical plasmas. This project will apply innovative methods developed in Australia to accurately model electron collisions with diatomic hydrides. It will generate new knowledge of the dynamics underlying fundamental chemical reactions, and bring international scientists together to study the influence of molecules in plasmas more accurately than ever before. Outcomes will include essential diagnostics for fusion reactors, methods for using the Ja ....Electron-molecule collisions in fusion and astrophysical plasmas. This project will apply innovative methods developed in Australia to accurately model electron collisions with diatomic hydrides. It will generate new knowledge of the dynamics underlying fundamental chemical reactions, and bring international scientists together to study the influence of molecules in plasmas more accurately than ever before. Outcomes will include essential diagnostics for fusion reactors, methods for using the James Webb Space Telescope to study astrophysical clouds, and strengthened ties between Australia and the global plasma physics community. The significant benefits will include accelerating the development of fusion technology as an alternative to fossil fuels, and furthering our understanding of stellar evolution.Read moreRead less